W syndrome

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Synonyms: Pallister-W syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability neurologic signs and symptoms (such as seizures spasticity strabismus) characteristic dysmorphic facial features (including broad forehead hypertelorism downslanting palpebral fissures broad and flat nasal bridge midline notch of upper lip lack of upper central incisors incomplete oral cleft and prominent mandible) and acne scars. Hearing impairment pseudo-bulbar palsy growth retardation and skeletal anomalies (camptodactyly clinodactyly bilateral cubitus valgus pes cavus/planus) have also been described.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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W syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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